Identification of the Unique Clinical and Genetic Features of Chinese Lung Cancer Patients With EGFR Germline Mutations in a Large-Scale Retrospective Study.

BACKGROUND: Epidemiological surveys have suggested that lung cancer has inherited susceptibility and shows familial aggregation. However, the distribution and prevalence of epidermal growth factor receptor (EGFR) germline variants and their roles in lung cancer genetic predisposition in Chinese population remain to be elucidated. METHODS: In this study, EGFR germline and somatic variants were retrospectively reviewed from the next-generation sequencing results of 31,906 patients with lung cancer. Clinical information was also collected for patients with confirmed EGFR germline mutations. RESULTS: A total of 22 germline EGFR variants were identified in 64 patients with lung cancer, accounting for 0.2% of the total cases studied. Five patients were diagnosed as multiple primary carcinomas. Family history was documented in 31.3% (20/64) of patients, 55% of which were diagnosed as lung cancer. G863D was the most frequent EGFR germline mutation, followed by P848L, D1014N, and K757R. Somatic EGFR-sensitive mutations were identified in 51.6% of patients with germline EGFR mutations. The proportion of L858R mutation, exon 19 deletion, and rare sensitive mutation was 50%, 17.6%, and 32.4%, respectively. D1014N and T790M mutations were common in young patients. The family members of patients with P848L, R776H, V769M, and V774M mutations were more commonly diagnosed with cancers. A total of 19 patients were confirmed to have received EGFR tyrosine kinase inhibitors (TKIs), but the response to EGFR-TKIs differed among patients with different EGFR mutations. CONCLUSION: Chinese patients with lung cancer harbored unique and dispersive EGFR germline mutations and showed unique clinical and genetic characteristics, with varied response patterns to EGFR-TKI treatment.

Clinical Utility of Circulating Tumor Cells in the Early Detection of Lung Cancer in Patients with a Solitary Pulmonary Nodule.

Objective: Lung cancer is the most common cancer and can appear as a solitary pulmonary nodule. Early detection of lung cancer in this patient population would be beneficial for the disease management. In this study, the potential application of circulating tumor cells (CTCs) on early detection of lung cancer in this population was investigated. Methods: The number of CTCs in bronchoalveolar lavage fluid and serum levels of tumor-related markers, cancer antigen 125 (CA125), carcinoembryonic antigen (CEA) and neuron-specific enolase (NSE) were measured in patients with a solitary pulmonary nodule. The association between CTCs and lung cancer was examined. The diagnosis performances of CTCs and selected tumor-related markers were compared. Results: The CTC positivity was significantly associated with lung cancer (P = .009). The sensitivity of CTCs and CA125, CEA, NSE, and CA125/CEA/NSE was 75%, 5.6%, 0%, 25%, and 33%, respectively. The sensitivity of CTCs was improved from 75% to 83% by the combination with CA125 or NSE. Conclusion: CTCs may be helpful for the early detection of lung cancer in patients with a solitary pulmonary nodule.

Recurrent upper quadrant pain: a fish bone secondary to gastric perforation and liver abscess.

A 60-year-old male patient was admitted to our hospital for recurrent upper quadrant pain for 1 month. He had a past history of coronary artery disease. After admission, he repeatedly suffered from high-grade fever, chills and upper quadrant pain. Computed tomography (CT) showed a round hypodense mass in the left lobe of the liver, approximately 2.7 × 2.2 cm in size, and a fish bone was confirmed by surgery in the left lobe of liver. The patient was cured completely after surgical removal of the fish bone and liver abscess. CT scan 1 month after discharge showed that the liver abscess had disappeared completely.